DisGeNET - a database of gene-disease associations

List of associated variants

Centronuclear myopathy, C0175709

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121909091	DNM2	0.851	0.120	19	10798543	missense variant	C/T	snv			4
rs121909092	DNM2	0.882	0.120	19	10793829	missense variant	G/A	snv			4
rs121909089	DNM2	0.882	0.120	19	10793833	missense variant	G/A;T	snv			3
rs121909090	DNM2	0.882	0.120	19	10793832	missense variant	C/T	snv		7.0E-06	3
rs121909095	DNM2	0.882	0.120	19	10823862	missense variant	C/G;T	snv			3
rs587783595	DNM2	0.882	0.120	19	10812271	missense variant	G/A;T	snv			3
rs132630304	MTM1	0.882	0.080	X	150598660	missense variant	C/G;T	snv			3
rs587783597	DNM2	0.925	0.080	19	10823868	missense variant	T/C	snv			2
rs587783598	DNM2	0.925	0.080	19	10823886	missense variant	C/G	snv			2
rs587783752	MTM1	0.925	0.080	X	150657854	frameshift variant	AA/-;AAA	delins			2
rs794729338	TTN-AS1 ; TTN	1.000	0.080	2	178574146	stop gained	CATATGC/TA	delins			2
rs1553742630	TTN ; TTN-AS1	1.000	0.080	2	178633900	frameshift variant	-/C	ins			2
rs587783594	DNM2	1.000	0.080	19	10793851	missense variant	T/A	snv			1